Search results for " Regulator"

showing 10 items of 728 documents

Non-classic cystic fibrosis associated with D1152HCFTR mutation

2010

Burgel P-R, Fajac I, Hubert D, Grenet D, Stremler N, Roussey M, Siret D, Languepin J, Mely L, Fanton A, Labbe A, Domblides P, Vic P, Dagorne M, Reynaud-Gaubert M, Counil F, Varaigne F, Bienvenu T, Bellis G, Dusser D. Non-classic cystic fibrosis associated with D1152H CFTR mutation. Background: Limited knowledge exists on phenotypes associated with the D1152H cystic fibrosis transmembrane conductance regulator (CFTR) mutation. Methods: Subjects with a D1152H allele in trans with another CFTR mutation were identified using the French Cystic Fibrosis Registry. Phenotypic characteristics were compared with those of pancreatic insufficient (PI) and pancreatic sufficient (PS) cystic fibrosis (CF)…

AdultMalemedicine.medical_specialtyConsensusPancreatic diseaseAdolescentCystic FibrosisGENETICSmedicine.medical_treatmentCystic Fibrosis Transmembrane Conductance RegulatorCystic fibrosisGastroenterologyMembrane PotentialsCohort StudiesYoung AdultChloridesInterquartile rangeForced Expiratory VolumeInternal medicineCYSTIC_FIBROSISHumansMedicineLung transplantationGenetic Predisposition to DiseaseChildSweatExocrine pancreatic insufficiencyMUTATIONGenetics (clinical)AgedBronchiectasisbiologybusiness.industryHomozygoteMiddle Agedmedicine.diseaseCongenital absence of the vas deferensCystic fibrosis transmembrane conductance regulatorNasal MucosaEndocrinologyAmino Acid SubstitutionChild Preschoolbiology.proteinFemalebusiness
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Genetic, andrological and clinical characteristics of patients with congenital bilateral absence of vas deferens

2001

Summary The possibility of retrieving spermatozoa from the epididymis allows patients with congenital bilateral absence of the vas deferens (CBAVD) to father a child by means of assisted reproduction techniques. This has, however, increased the chance of transmitting a mutated allele of the cystic fibrosis transmembrane conductance regulator (CFTR) gene which increases the risk of generating offspring with cystic fibrosis (CF). Because of the increased heterogeneity of the CFTR locus, the study of a discrete number of mutations, as usually carried out in a diagnostic work-up, is unable to ascertain the presence of a mutation in a relatively high proportion of the patients screened. In an at…

AdultMalemedicine.medical_specialtyGenotypeCystic Fibrosis Transmembrane Conductance Regulator/genetics; Vas Deferens/abnormalities; Urogenital Abnormalities/geneticsUrologyEndocrinology Diabetes and MetabolismPopulationCystic Fibrosis Transmembrane Conductance RegulatorGastroenterologyCystic fibrosisVas DeferensPregnancyInternal medicinemedicineHumansRespiratory functionSperm Injections IntracytoplasmicAlleleeducationSweat testeducation.field_of_studybiologymedicine.diagnostic_testbusiness.industryVas deferensPregnancy Outcomemedicine.diseaseEpididymisSpermatozoaCystic fibrosis transmembrane conductance regulatorVas Deferens/abnormalitiesEndocrinologymedicine.anatomical_structureReproductive MedicineUrogenital Abnormalities/geneticsUrogenital Abnormalitiesbiology.proteinCystic Fibrosis Transmembrane Conductance Regulator/geneticsFemalebusiness
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Association between glucokinase regulatory protein (GCKR) and apolipoprotein A5 (APOA5) gene polymorphisms and triacylglycerol concentrations in fast…

2008

Background: Hypertriglyceridemia is a risk factor for cardiovascular disease. Variation in the apolipoprotein A5 (APOA5) and glucokinase regulatory protein (GCKR) genes has been associated with fasting plasma triacylglycerol. Objective: We investigated the combined effects of the GCKR rs780094C→T, APOA5 −1131T→C, and APOA5 56C→G single nucleotide polymorphisms (SNPs) on fasting triacylglycerol in several independent populations and the response to a high-fat meal and fenofibrate interventions. Design: We used a cross-sectional design to investigate the association with fasting triacylglycerol in 8 populations from America, Asia, and Europe (n = 7730 men and women) and 2 intervention studies…

AdultMalemedicine.medical_specialtyGenotypeGene-Nutrient InteractionsMedicine (miscellaneous)Blood lipidsSingle-nucleotide polymorphismPolymorphism Single NucleotideYoung AdultFenofibrateGene FrequencyRisk FactorsInternal medicineHyperlipidemiamedicineHumansGenetic Predisposition to DiseaseApolipoproteins ATriglyceridesAdaptor Proteins Signal TransducingAgedHypolipidemic AgentsHypertriglyceridemiaNutrition and DieteticsFenofibrateGlucokinase regulatory proteinbiologyGlucokinaseHypertriglyceridemianutritional and metabolic diseasesGenetic VariationFastingMiddle Agedmedicine.diseasePostprandial PeriodDietary FatsPostprandialEndocrinologyCross-Sectional StudiesTreatment OutcomeApolipoprotein A-Vbiology.proteinlipids (amino acids peptides and proteins)Femalemedicine.drugThe American journal of clinical nutrition
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The in vitro addition of methotrexate and/or methylprednisolone determines peripheral reduction in Th17 and expansion of conventional Treg and of IL-…

2014

The aim of our study was to evaluate methotrexate (MTX) and methylprednisolone (MP) effect on peripheral Th17 and Treg subsets in patients with rheumatoid arthritis (RA). We enrolled 15 patients (10 early RA and 5 long-standing disease) with active RA and 10 age-matched healthy donors as controls. Frequencies of Th17 and Treg were quantified using flow cytometry before and after in vitro addition of MTX, MP or both drugs. Our results showed a reduction in the overall Th17 population followed by an increase in Th17 IL-10+ and Treg, after in vitro treatment of PBMCs with the drugs in patients with early RA. Long-standing disease patients showed a less evident increase in Treg cells and less e…

AdultMalemedicine.medical_specialtyImmunologyPopulationArthritischemical and pharmacologic phenomenaPeripheral blood mononuclear cellMethylprednisoloneT-Lymphocytes RegulatoryArthritis RheumatoidRheumatologyInternal medicinemedicineImmunology and AllergyHumanseducationRheumatoid arthritieducation.field_of_studybusiness.industryhemic and immune systemsMiddle Agedmedicine.diseaseRheumatologyInterleukin-10TregSettore MED/16 - ReumatologiaMethotrexateMethylprednisoloneRheumatoid arthritis Th17 TregRheumatoid arthritisAntirheumatic AgentsImmunologyTh17 CellsMethotrexateFemaleTh17Interleukin 17businessmedicine.drug
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Immunologic effects of rituximab on the human spleen in immune thrombocytopenia

2011

Abstract Immune thrombocytopenia (ITP) is an autoimmune disease with a complex pathogenesis. As in many B cell–related autoimmune diseases, rituximab (RTX) has been shown to increase platelet counts in some ITP patients. From an immunologic standpoint, the mode of action of RTX and the reasons underlying its limited efficacy have yet to be elucidated. Because splenectomy is a cornerstone treatment of ITP, the immune effect of RTX on this major secondary lymphoid organ was investigated in 18 spleens removed from ITP patients who were treated or not with RTX. Spleens from ITP individuals had follicular hyperplasia consistent with secondary follicles. RTX therapy resulted in complete B-cell de…

AdultMalemedicine.medical_treatmentImmunologySplenectomySpleenT-Lymphocytes RegulatoryBiochemistryAntibodies Monoclonal Murine-DerivedImmune systemimmune system diseaseshemic and lymphatic diseasesHumansImmunologic FactorsMedicineImmunobiologyAgedAutoimmune diseaseB-LymphocytesPurpura Thrombocytopenic Idiopathicbiologybusiness.industryCell BiologyHematologyMiddle AgedTh1 Cellsmedicine.diseaseLymphatic systemmedicine.anatomical_structureImmunologyMonoclonalbiology.proteinFemaleRituximabAntibodyRituximabbusinessSpleenmedicine.drugBlood
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The influence of bone marrow- and synovium-derived mesenchymal stromal cells from osteoarthritis patients on regulatory T cells in co-culture

2013

Summary There is increasing evidence that inflammation in the synovium plays a major role in the progression of osteoarthritis (OA). However, the immunogenic properties of mesenchymal stromal cells (MSCs), which are considered to regulate immunity in various diseases, remain largely unknown in OA. The purpose of this study was to determine the influence of MSCs from OA patients on regulatory T cells (Tregs) in an allogeneic co-culture model. Bone marrow (BM) and synovial membrane (SM) were harvested from hip joints of OA patients and co-cultured with lymphocytes enriched in CD4+CD25+CD127– regulatory T cells (Treg+LC) from healthy donors. Treg proportions and MSC markers were assessed by fl…

AdultMalemedicine.medical_treatmentLymphocyteT cellImmunologyBone Marrow Cellschemical and pharmacologic phenomenaT-Lymphocytes RegulatoryInterleukin-7 Receptor alpha SubunitYoung AdultOsteoarthritisHumansImmunology and AllergyMedicineIL-2 receptorInterleukin-7 receptorAgedAged 80 and overInterleukin-6business.industrySynovial MembraneMesenchymal stem cellForkhead Transcription FactorsMesenchymal Stem CellsMiddle AgedCoculture Techniquesmedicine.anatomical_structureCytokineImmunologyFemaleBone marrowSynovial membranebusinessBiomarkersClinical and Experimental Immunology
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The role of recent thymic emigrant-regulatory T-cell (RTE-Treg) differentiation during pregnancy.

2014

During pregnancy, regulatory T cells (Tregs) have a key role in maternal immune tolerance to the semi-allogeneic fetus. Our previous results showed that the naive CD45RA(+)-Treg pool is functionally improved in pregnant women compared with non-pregnant women. Therefore, we examined the thymic output and differentiation of CD45RA(+)CD31(+) recent thymic emigrant (RTE)-Tregs during normal pregnancy and in the presence of preeclampsia. With the onset of pregnancy, the composition of the total CD4(+)CD127(low+/-)FoxP3(+)-Treg pool changed in the way that its percentage of RTE- and CD45RA(-)CD31(+)-memory Tregs decreased strongly, whereas that of the CD45RA(+)CD31(-)-mature naive (MN)-Tregs did …

Adultmedicine.medical_specialtyAdolescentRegulatory T cellImmunologyRecent Thymic Emigrantchemical and pharmacologic phenomenaThymus GlandT-Lymphocytes RegulatoryPreeclampsiaImmune toleranceYoung AdultPre-EclampsiaPregnancyT-Lymphocyte SubsetsInternal medicineImmune ToleranceImmunology and AllergyMedicineAnimalsHumansInterleukin-7 receptorFetusPregnancybusiness.industryFOXP3hemic and immune systemsCell DifferentiationForkhead Transcription FactorsCell BiologyMiddle Agedmedicine.diseasemedicine.anatomical_structureEndocrinologyLeukocyte Common AntigensFemalebusinessImmunologic MemoryImmunology and cell biology
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The role of regulatory T cell (Treg) subsets in gestational diabetes mellitus.

2014

Physiological changes during normal pregnancy are characterized by an inflammatory immune response and insulin resistance. Therefore, we hypothesize that gestational diabetes mellitus (GDM) may be caused by an inappropriate adaption of the maternal immune system to pregnancy. In this study we examined the role of regulatory T cell (Treg) differentiation for the development of GDM during pregnancy. We used six-colour flow cytometric analysis to demonstrate that the total CD4(+) CD127(low+/-) CD25(+) forkhead box protein 3 (FoxP3(+)) T(reg) pool consists of four different T(reg) subsets: naive CD45RA(+) T(regs), HLA-DR(-) CD45RA(-) memory T(regs) (DR(-) T(regs)) and the highly differentiated …

Adultmedicine.medical_specialtyendocrine system diseasesRegulatory T cellImmunologychemical and pharmacologic phenomenaCell SeparationLymphocyte ActivationT-Lymphocytes RegulatoryImmunophenotypingYoung AdultImmune systemInsulin resistanceimmune system diseasesPregnancyT-Lymphocyte Subsetshemic and lymphatic diseasesInternal medicinemedicineImmune ToleranceImmunology and AllergyHomeostasisHumansIL-2 receptorInterleukin-7 receptorbusiness.industryFOXP3hemic and immune systemsCell DifferentiationForkhead Transcription FactorsT helper cellOriginal Articlesmedicine.diseaseFlow CytometryGestational diabetesDiabetes GestationalEndocrinologymedicine.anatomical_structureImmunologyCD4 AntigensFemalebusinessImmunologic MemoryClinical and experimental immunology
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C4-dicarboxylate carriers and sensors in bacteria

2002

AbstractBacteria contain secondary carriers for the uptake, exchange or efflux of C4-dicarboxylates. In aerobic bacteria, dicarboxylate transport (Dct)A carriers catalyze uptake of C4-dicarboxylates in a H+- or Na+-C4-dicarboxylate symport. Carriers of the dicarboxylate uptake (Dcu)AB family are used for electroneutral fumarate:succinate antiport which is required in anaerobic fumarate respiration. The DcuC carriers apparently function in succinate efflux during fermentation. The tripartite ATP-independent periplasmic (TRAP) transporter carriers are secondary uptake carriers requiring a periplasmic solute binding protein. For heterologous exchange of C4-dicarboxylates with other carboxylic …

Aerobic bacteriaAntiporterSuccinic AcidBiophysicsOrganic Anion TransportersReceptors Cell Surfacemedicine.disease_causeBiochemistryFumarate (succinate) sensorTwo-component systemBacterial ProteinsFumaratesEscherichia colimedicineAmino Acid SequenceEscherichia coliDicarboxylate uptake SHistidine protein kinasePhylogenyHistidineDicarboxylic Acid TransportersDicarboxylate transport BbiologyEscherichia coli ProteinsBiological TransportPeriplasmic spaceCell Biologybiology.organism_classificationTwo-component regulatory systemBacteria AerobicModels ChemicalBiochemistryAntiportFumarate/succinate transportEffluxDicarboxylate uptake carrierProtein KinasesDicarboxylate transport A carrierBacteriaSignal TransductionBiochimica et Biophysica Acta (BBA) - Bioenergetics
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Hormonal regulation of S-adenosylmethionine synthase transcripts in pea ovaries

1996

Two cDNA clones coding for S-adenosyl-L-methionine synthase (SAMs, EC 2.5.1.6) have been isolated from a cDNA library of gibberellic acid-treated unpollinated pea ovaries. Both cDNAs were sequenced showing a high degree of identity but coding for different SAMs polypeptides. The presence of two SAMs genes in pea was further confirmed by Southern analysis. Expression of the SAMs genes in the pea plant was found at different levels in vegetative and reproductive tissues. We characterized the expression levels of SAMs genes during the development or senescence of pea ovaries. Northern analysis showed that transcription of SAMs genes in parthenocarpic fruits was upregulated by auxins in the sam…

AgingMolecular Sequence DataSequence HomologyPlant ScienceBiologyGenes PlantParthenocarpychemistry.chemical_compoundPlant Growth RegulatorsGene Expression Regulation PlantAuxinComplementary DNAPolyaminesGeneticsAmino Acid SequenceRNA MessengerGeneGibberellic acidchemistry.chemical_classificationMessenger RNAAniline CompoundsBase SequencecDNA libraryPeasfood and beveragesMethionine AdenosyltransferaseSequence Analysis DNAGeneral MedicineEthylenesIsoenzymesBiochemistrychemistryRNA PlantFruitGibberellinAgronomy and Crop Science
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